| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | BEFREE | There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer. | 12533824 | 2003 |
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|
0.100 | GeneticVariation | BEFREE | We could find no group of Ashkenazi Jews with colorectal cancer for whom screening for I130</span>7K would be clinically useful. | 16875934 | 2006 |
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|
0.100 | GeneticVariation | BEFREE | A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for colorectal cancer (CRC) and in the general population. | 11551102 | 2001 |
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|
0.100 | GeneticVariation | BEFREE | The I1307K mutation is associated with a moderate excess risk for CRC, but age of onset seems not to be earlier and this variant is not associated with a multiple colonic polyp phenotype. | 15929773 | 2005 |
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|
0.100 | GeneticVariation | BEFREE | Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family. | 9831355 | 1998 |
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|
0.100 | GeneticVariation | BEFREE | The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. | 10756345 | 2000 |
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|
0.100 | GeneticVariation | BEFREE | Our findings support the hypothesis that the I1307K mutation is unique to the Ashkenazi Jews, contributes to tumor predisposition in colorectal cancer, and is unrelated to mismatch repair deficiency. | 9869603 | 1999 |
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|
0.100 | GeneticVariation | BEFREE | The I1307K variant was found in 32 subjects with non-CRC (7.9%). | 17920230 | 2007 |
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|
0.100 | GeneticVariation | BEFREE | The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, and has recently been associated with an increased risk for breast cancer in the same population. | 10555757 | 1999 |